TAVI in Patient Suffering from Niemann-Pick Disease (Acid Sphingomyelinase Deficiency) with Concomitant Situs Inversus and Dextrocardia

Abstract

Acid sphingomyelinase deficiency (ASMD)-also known as Niemann-Pick (NP) disease-is a rare, autosomal recessive disorder which is characterized by deficiency of the lysosomal enzyme acid sphingomyelinase (ASM), resulting in excessive storage of lipids in organs (i.e., spleen, liver, lung, bone marrow, lymph nodes, and vascular system). Only a few cases of moderate-to-severe valvular heart disease due to ASMD are described in the literature, mostly in adulthood. We report here the case of a patient with NP disease subtype B that was diagnosed during adulthood. NP disease in this patient was found to be associated with situs inversus. Specifically, a severe, symptomatic aortic stenosis was identified, and the need for surgical or percutaneous intervention was discussed. The heart team chose transcatheter aortic valvular implantation (TAVI), which was successfully performed with no complications on follow-up.

Keywords: Acid sphingomyelinase deficiency disease; Aortic stenosis; Niemann–Pick; Risk scores; Situs inversus; Transcatheter aortic valve implantation.

Fig. 1

Computed tomography (CT) scans of the thorax showing the situs inversus. Specifically, the CT scans outlined the inversion of the sites of heart and great vessels

Fig. 2

Echocardiographic evaluation. a Mean and maximum gradient at the aortic root level, b B-mode identification of the aortic root and valve via apical view

Fig. 3

Percutaneous implantation of the prosthetic aortic valve. a Initial release of the bioprosthesis, b final result after the complete release of the bioprosthesis